ClinVar Miner

Variants studied for CNGA1-related retinopathy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
15 6 11 2 4 36

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CNGA1, LOC101927157 15 6 10 2 4 35
CNGB1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 10 0 0 0 0 10
Fulgent Genetics, Fulgent Genetics 1 3 3 0 0 7
Ocular Genomics Institute, Massachusetts Eye and Ear 2 2 2 0 0 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 0 2 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 1 3
Revvity Omics, Revvity 0 1 2 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
3billion 2 0 1 0 0 3
Baylor Genetics 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Servicio Extremeño de Salud, Hospital de Mérida 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
DASA 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.